Variant report

Variant	nsv904204
Chromosome Location	chr15:50223697-50273670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:50265660-50265875	HepG2	liver:	n/a	chr15:50265794-50265805
2	CEBPB	chr15:50226708-50227050	IMR90	lung:	n/a	chr15:50226877-50226888
3	CEBPB	chr15:50244843-50245052	MCF-7	breast:	n/a	chr15:50244943-50244954
4	CEBPB	chr15:50226663-50227103	MCF-7	breast:	n/a	chr15:50226877-50226888
5	CEBPB	chr15:50244939-50244956	H1-hESC	embryonic stem cell:	n/a	chr15:50244943-50244954
6	CEBPB	chr15:50265669-50265934	IMR90	lung:	n/a	chr15:50265794-50265805
7	CEBPB	chr15:50226737-50227025	H1-hESC	embryonic stem cell:	n/a	chr15:50226877-50226888
8	CEBPB	chr15:50226710-50227065	HepG2	liver:	n/a	chr15:50226877-50226888
9	CEBPB	chr15:50244784-50245065	HepG2	liver:	n/a	chr15:50244943-50244954
10	CEBPB	chr15:50226754-50227042	K562	blood:	n/a	chr15:50226877-50226888
11	CEBPB	chr15:50265730-50265838	Hela-S3	cervix:	n/a	chr15:50265794-50265805
12	CEBPB	chr15:50226707-50227048	A549	lung:	n/a	chr15:50226877-50226888
13	CEBPB	chr15:50244805-50245063	IMR90	lung:	n/a	chr15:50244943-50244954
14	CEBPB	chr15:50244820-50244979	K562	blood:	n/a	chr15:50244943-50244954
15	CEBPB	chr15:50226578-50227137	MCF-7	breast:	n/a	chr15:50226877-50226888
16	CEBPB	chr15:50244795-50245092	A549	lung:	n/a	chr15:50244943-50244954
17	CEBPB	chr15:50254358-50254487	A549	lung:	n/a	n/a
18	CEBPB	chr15:50226722-50227056	Hela-S3	cervix:	n/a	chr15:50226877-50226888
19	CHD2	chr15:50245658-50245684	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr15:50244904-50244921	GM10248	blood:	n/a	n/a
21	CTCF	chr15:50241351-50241407	GM20000	blood:	n/a	n/a
22	CTCF	chr15:50245600-50245750	MCF-7	breast:	n/a	n/a
23	CTCF	chr15:50228398-50228475	ProgFib	skin:	n/a	n/a
24	CTCF	chr15:50264053-50264129	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chr15:50270680-50270830	HFF-Myc	foreskin:	n/a	n/a
26	ELK1	chr15:50248081-50248119	K562	blood:	n/a	n/a
27	EP300	chr15:50253966-50255019	SK-N-SH	brain:	n/a	chr15:50254304-50254312 chr15:50254303-50254317
28	EP300	chr15:50238922-50239273	T-47D	breast:	n/a	n/a
29	EP300	chr15:50254474-50254738	SK-N-SH_RA	brain:	n/a	n/a
30	EP300	chr15:50238959-50239317	T-47D	breast:	n/a	n/a
31	EP300	chr15:50254202-50254753	SK-N-SH_RA	brain:	n/a	chr15:50254304-50254312 chr15:50254303-50254317
32	ESR1	chr15:50239029-50239240	ECC-1	luminal epithelium:	n/a	n/a
33	FAM48A	chr15:50226178-50226376	GM12878	blood:	n/a	n/a
34	FOS	chr15:50239038-50239238	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr15:50239016-50239238	MCF10A-Er-Src	breast:	n/a	n/a
36	FOXA1	chr15:50238991-50239253	ECC-1	luminal epithelium:	n/a	chr15:50239108-50239123
37	FOXA1	chr15:50238984-50239300	T-47D	breast:	n/a	chr15:50239108-50239123
38	FOXA1	chr15:50238964-50239356	T-47D	breast:	n/a	chr15:50239108-50239123
39	FOXA1	chr15:50239011-50239273	ECC-1	luminal epithelium:	n/a	chr15:50239108-50239123
40	FOXA1	chr15:50258517-50258893	HepG2	liver:	n/a	n/a
41	FOXA2	chr15:50258485-50258860	A549	lung:	n/a	n/a
42	GATA2	chr15:50254350-50254774	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr15:50240585-50240871	MCF-7	breast:	n/a	n/a
44	GATA3	chr15:50254261-50254861	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr15:50238942-50239293	T-47D	breast:	n/a	n/a
46	GATA3	chr15:50254226-50254758	SK-N-SH	brain:	n/a	n/a
47	GATA3	chr15:50264656-50264802	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr15:50253366-50253553	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr15:50245635-50246007	MCF-7	breast:	n/a	n/a
50	GATA3	chr15:50254253-50254910	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:50272105..50274274-chr15:50283581..50286177,2	MCF-7	breast:
2	chr15:50223443..50226093-chr15:50228959..50230928,2	K562	blood:
3	chr15:50269706..50272212-chr15:50276259..50278710,2	K562	blood:
4	chr15:50223443..50226093-chr15:50228959..50230928,2	K562	blood:
5	chr15:50229689..50230313-chr6:58776456..58777229,2	MCF-7	breast:

Variant related genes	Relation type
ATP8B4	TF binding region
RNA5SP394	TF binding region

Extended variants
information (count: 1855 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1855 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17495375	chr15:50223697-50223698	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2413981	chr15:50223764-50223765	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553491144	chr15:50223809-50223810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368101467	chr15:50223815-50223816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565447101	chr15:50223858-50223859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138050515	chr15:50223866-50223867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372316519	chr15:50223883-50223884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576253123	chr15:50223943-50223944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377155978	chr15:50224028-50224029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189087663	chr15:50224093-50224094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556577521	chr15:50224100-50224101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181869568	chr15:50224138-50224139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547616168	chr15:50224190-50224191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28631055	chr15:50224192-50224193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567287554	chr15:50224242-50224243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377492174	chr15:50224246-50224247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16963106	chr15:50224300-50224301	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12148767	chr15:50224311-50224312	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs543170453	chr15:50224346-50224347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554728343	chr15:50224392-50224393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536368917	chr15:50224397-50224398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28465431	chr15:50224413-50224414	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373453373	chr15:50224454-50224455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532009597	chr15:50224456-50224457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113829587	chr15:50224462-50224463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7350791	chr15:50224493-50224494	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186393279	chr15:50224525-50224526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117161904	chr15:50224532-50224533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7350796	chr15:50224565-50224566	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546992777	chr15:50224606-50224607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572907950	chr15:50224613-50224614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565741709	chr15:50224634-50224635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189664396	chr15:50224655-50224656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559069224	chr15:50224670-50224671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7350798	chr15:50224692-50224693	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537342554	chr15:50224864-50224865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540264432	chr15:50224874-50224875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553002711	chr15:50224950-50224951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555673561	chr15:50224972-50224973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146252901	chr15:50224985-50224986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573870188	chr15:50225045-50225046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539002918	chr15:50225092-50225093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541212709	chr15:50225166-50225167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138939533	chr15:50225170-50225171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180749777	chr15:50225189-50225190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542781607	chr15:50225210-50225211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35111547	chr15:50225221-50225222	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576599265	chr15:50225301-50225302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543617562	chr15:50225309-50225310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12101700	chr15:50225318-50225319	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50205400-50234400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr15:50210200-50232400	Strong transcription	Primary hematopoietic stem cells	blood
3	chr15:50210800-50226400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr15:50211000-50227200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr15:50211400-50232400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:50217600-50226400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:50218000-50224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:50218600-50227200	Weak transcription	Liver	Liver
9	chr15:50219800-50223800	Weak transcription	Brain Substantia Nigra	brain
10	chr15:50220600-50226000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr15:50220800-50226400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:50224000-50224800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:50224800-50226800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:50226000-50227200	Enhancers	Fetal Heart	heart
15	chr15:50226000-50245200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr15:50226200-50226600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:50226400-50226800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:50226400-50232400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr15:50226400-50236000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:50226800-50228200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:50227200-50228200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr15:50228200-50229000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:50228200-50234200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr15:50229000-50232200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:50232200-50232800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:50232400-50233000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr15:50232400-50234200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr15:50232400-50241800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:50233000-50238800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr15:50234200-50235200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr15:50234200-50235400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr15:50234400-50235400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr15:50235200-50236800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr15:50235400-50236200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr15:50235400-50236400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
36	chr15:50235600-50236800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:50236000-50236800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:50236200-50237800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr15:50236400-50237000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:50236400-50237800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr15:50236800-50239000	Strong transcription	Primary hematopoietic stem cells	blood
42	chr15:50236800-50245000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:50237800-50238400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr15:50237800-50242600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr15:50238400-50238800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr15:50238600-50239600	Enhancers	Liver	Liver
47	chr15:50238800-50242000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr15:50239000-50239200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:50239000-50239600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr15:50239000-50239600	Enhancers	Pancreas	Pancrea

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